Living with Neurofibromatosis

Hello everyone. My Grandson Jared is now five years old. It has been a year since he was diagnosed with NF type 1. Our primary concern or the reason my daughter took him to the physician was because he was so small and clumsy.

I started noticing him falling behind on the growth and development chart at around age 2 1/2. Being a nurse I shared my concerns. He also was not developing speech as well as he should have- showing considerable delays in this area. The doctor followed up by telling my daughter you are small your mother and sister are small. Chihauha’s have chihauha’s not great danes. after another year passed without any growth or improvement on his speech then the doctor showed concern and ordered tests! especially when Jared’s dad who is over 6′ tall showed up for the appt.

It took a year of testing and now we know. he has been complaining of headaches a lot but they say he is fine. now he is five and a half yrs old and still wearing a size 2 to 3 toddler. He has only gained 3 lbs since his diagnosis a year ago but no one seems too worried except us! Now I have a grandaughter from my youngest daughter who is showing the same growth delays. The doctors are putting off doing the genetic testing because they say its really rare for females to have this.

I keep wondering what I have to do to get someone to listen to me. If I try to point out that both my daughters have the same parents and the same blood type and the same heart disease so what would be so unusual if they both had children with NF I just come up against a blank wall of indifference.